A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947452



Internal ID9709914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:176672698..176673071hg38UCSC Ensembl
Outerchr4:177593849..177594222hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728775, esv2728772
Supporting Variants
SamplesSSM024
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6947452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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